A Safer Pre-Natal Diagnosis Using Free DNA in Maternal Blood (IONA)

A diagnostic peripheral maternal blood test taken and the free foetal DNA is analysed and the presence of trisomies using a novel method.

Study Overview

• Status: Completed
• Conditions: Aneuploidy, NIPT

Detailed Description

A total of ~2000 participants have donated blood samples used for the development and validation of the IONA non-invasive prenatal screening test for Downs, Edwards and Patau syndrome. The IONA Test was CE marked Feb 2013. We are now recruiting a further 800 participants to provide blood samples to further develop and verify the test for other chromosomal abnormalities and to improve test efficiency.

• Study Type: Observational
• Enrollment (Anticipated): 1632

Contacts and Locations

Study Locations

• United Kingdom
  • Manchester, United Kingdom, M156SZ
    • Premaitha Health

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Female

• Sampling Method: Probability Sample

Study Population

Mothers attending clinic for routine screening. Followed up at around 1 years duration.

Description

Inclusion Criteria:

• Patient/subject is willing and able to give informed consent for participation in the study.
• Female, aged 16 years or above.
• Currently pregnant at time of entry to the study.
• Pregnancy having been identified as 'high-risk' by screening test.

Exclusion Criteria:

• The patient/subject may not enter the study if ANY of the following apply:
• The participant herself has Down's Syndrome or other chromosomal abnormality.
• Children under 16
• Adults with learning disabilities
• Adults who are unconscious or very severely ill
• Adults who have a terminal illness
• Adults in emergency situations
• Adults suffering from a mental illness
• Adults with dementia
• Prisoners
• Young offenders
• Adults who are unable to consent for themselves
• Any person considered to have a particularly dependent relationship with investigators

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Controls
Aneuploidy; T13, 18, 21 and other chromosomal abnormalities yet to be determined

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Validation of method of novel analysis for Aneuploidy	Analysis of maternal blood by a selective amplification of fetal DNA over maternal DNA within that sample. Patients to be followed up for 1 year.	2013 Approx

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Optimization of existing methods for maximising ffDNA	Use of novel methods either in conjugation with existing methods or as a substitute for steps in existing methodologies- currently undergoing laboratory development that could increase the titre of fetal DNA within a given sample. Patients will be followed up for 1 year.	up to July 2019

Collaborators and Investigators

• Sponsor: Premaitha Health
• Investigators: Principal Investigator: Brenda Kelly, MBBS, National Health Service, United Kingdom

Study record dates

Study Major Dates

• Study Start: April 1, 2007
• Primary Completion (Actual): February 1, 2018
• Study Completion (Actual): December 1, 2019

Study Registration Dates

• First Submitted: October 11, 2011
• First Submitted That Met QC Criteria: November 15, 2011
• First Posted (Estimate): November 16, 2011

Study Record Updates

• Last Update Posted (Actual): June 11, 2020
• Last Update Submitted That Met QC Criteria: June 9, 2020
• Last Verified: June 1, 2020

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Chromosome Aberrations; Aneuploidy
• Other Study ID Numbers: 07H0607101